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Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer.
Cancer Sci. 2008 Sep; 99(9):1715-9.CS

Abstract

Recently, a high rate of endometrial cancer has been reported in women with hereditary non-polyposis colorectal cancer (HNPCC), suggesting a relationship between familial endometrial cancers and HNPCC. Familial endometrial cancers constitute only about 0.5% of all endometrial carcinomas and it is essential to examine family histories in detail. A mutational analysis of three DNA mismatch repair (MMR) genes (hMLH1, hMSH2 and hMSH6) in patients with endometrial cancer who meet our criteria for familial predisposition to HNPCC-associated endometrial cancers was performed. Mutations were detected in 18 of the 120 patients (15.0%). Most HNPCC-related endometrial cancers do not meet the New Amsterdam Criteria for HNPCC. These clinical criteria may identify only some HNPCC-associated endometrial cancers. Establishing the correct family history for endometrial cancer patients is important for diagnosing familial endometrial carcinomas. An analysis of MMR genes may be useful for patients with endometrial cancer showing familial aggregation. In addition, gynecologists must be accurately informed, and it is important to perform large-scale, multicenter studies both nationwide and internationally.

Authors+Show Affiliations

Department of Cytology and Gynecology, Cancer Institute Hospital of Ariake, Japanese Foundation for Cancer Research, 3-10-6 Ariake, Koto-ku, Tokyo 135-8550, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18624996

Citation

Hirai, Y, et al. "Molecular Epidemiological and Mutational Analysis of DNA Mismatch Repair (MMR) Genes in Endometrial Cancer Patients With HNPCC-associated Familial Predisposition to Cancer." Cancer Science, vol. 99, no. 9, 2008, pp. 1715-9.
Hirai Y, Banno K, Suzuki M, et al. Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer. Cancer Sci. 2008;99(9):1715-9.
Hirai, Y., Banno, K., Suzuki, M., Ichikawa, Y., Udagawa, Y., Sugano, K., & Miki, Y. (2008). Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer. Cancer Science, 99(9), 1715-9. https://doi.org/10.1111/j.1349-7006.2008.00886.x
Hirai Y, et al. Molecular Epidemiological and Mutational Analysis of DNA Mismatch Repair (MMR) Genes in Endometrial Cancer Patients With HNPCC-associated Familial Predisposition to Cancer. Cancer Sci. 2008;99(9):1715-9. PubMed PMID: 18624996.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC-associated familial predisposition to cancer. AU - Hirai,Y, AU - Banno,K, AU - Suzuki,M, AU - Ichikawa,Y, AU - Udagawa,Y, AU - Sugano,K, AU - Miki,Y, Y1 - 2008/07/09/ PY - 2008/7/16/pubmed PY - 2008/12/17/medline PY - 2008/7/16/entrez SP - 1715 EP - 9 JF - Cancer science JO - Cancer Sci VL - 99 IS - 9 N2 - Recently, a high rate of endometrial cancer has been reported in women with hereditary non-polyposis colorectal cancer (HNPCC), suggesting a relationship between familial endometrial cancers and HNPCC. Familial endometrial cancers constitute only about 0.5% of all endometrial carcinomas and it is essential to examine family histories in detail. A mutational analysis of three DNA mismatch repair (MMR) genes (hMLH1, hMSH2 and hMSH6) in patients with endometrial cancer who meet our criteria for familial predisposition to HNPCC-associated endometrial cancers was performed. Mutations were detected in 18 of the 120 patients (15.0%). Most HNPCC-related endometrial cancers do not meet the New Amsterdam Criteria for HNPCC. These clinical criteria may identify only some HNPCC-associated endometrial cancers. Establishing the correct family history for endometrial cancer patients is important for diagnosing familial endometrial carcinomas. An analysis of MMR genes may be useful for patients with endometrial cancer showing familial aggregation. In addition, gynecologists must be accurately informed, and it is important to perform large-scale, multicenter studies both nationwide and internationally. SN - 1349-7006 UR - https://www.unboundmedicine.com/medline/citation/18624996/Molecular_epidemiological_and_mutational_analysis_of_DNA_mismatch_repair__MMR__genes_in_endometrial_cancer_patients_with_HNPCC_associated_familial_predisposition_to_cancer_ L2 - https://doi.org/10.1111/j.1349-7006.2008.00886.x DB - PRIME DP - Unbound Medicine ER -